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PEX7-Related Refsum Disease
Clinical Genetic Test
Help
offered by
Amsterdam UMC, Location AMC
View lab's test page
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GTR Test Accession: Help GTR000322788.2
INHERITED DISEASENERVOUS SYSTEMMETABOLIC DISEASE ... View more
Last updated in GTR: 2021-11-24
View version history
Last annual review date for the lab: 2024-10-14 LinkOut
At a Glance
Test purpose: Help
Mutation Confirmation; Risk Assessment; Screening
Conditions (1): Help
Phytanic acid storage disease
Genes (2): Help
PEX7 (6q23.3); PHYH (10p13)
Methods (3): Help
Biochemical Genetics - Analyte: Metabolite levels; ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Amsterdam UMC, Location AMC
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Instructions including forms can be found on www.labgmd.nl
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Sequence Analysis
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
No
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Test Order Code, Lab contact for this test, Test strategy
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 2
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 3
Method Category Help
Test method Help
Instrument *
Analyte
Metabolite levels
Enzyme assay
Enzymatic levels
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Mutation Confirmation; Risk Assessment; Screening
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
With our method we have identified two pathogenic mutations (compound heterozygous or homozygous) in the PHYH gene of 38 patients of a cohort of 42 non-related patients diagnosed with Refsum Disease on the basis of clinical presentation in combination with specific biochemical parameters as determined in the enzyme diagnostics section … View more
Assay limitations: Help
Whole gene testing includes analysis of all coding exons plus flanking intron sequences by Sanger sequencing. In principle, this method will identify all missense and nonsense mutations, small deletions, small duplications and small insertions located in the analysed fragments. The presence of large deletions or duplication
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Test Confirmation, Citations to support assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.